Variant report

Variant	esv3394736
Chromosome Location	chr7:25989527-25992275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:25992088-25992801	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:25990129-25990409	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:25990764-25990770	HepG2	liver:	n/a	n/a
4	ATF1	chr7:25990703-25991021	K562	blood:	n/a	n/a
5	ATF2	chr7:25989256-25989966	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr7:25989381-25989818	GM12878	blood:	n/a	n/a
7	ATF2	chr7:25989843-25990369	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr7:25990663-25990981	K562	blood:	n/a	chr7:25990933-25990953
9	ATF3	chr7:25990814-25991075	H1-hESC	embryonic stem cell:	n/a	chr7:25990933-25990953
10	ATF3	chr7:25990785-25990981	GM12878	blood:	n/a	chr7:25990933-25990953
11	ATF3	chr7:25990801-25991002	H1-hESC	embryonic stem cell:	n/a	chr7:25990933-25990953
12	ATF3	chr7:25990708-25991111	GM12878	blood:	n/a	chr7:25990933-25990953
13	BACH1	chr7:25990138-25991274	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCLAF1	chr7:25990614-25990978	GM12878	blood:	n/a	chr7:25990703-25990716 chr7:25990827-25990840
15	BCLAF1	chr7:25989244-25989972	GM12878	blood:	n/a	n/a
16	BHLHE40	chr7:25989321-25991286	K562	blood:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
17	BHLHE40	chr7:25990726-25991010	HepG2	liver:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
18	BHLHE40	chr7:25989310-25991376	GM12878	blood:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
19	BHLHE40	chr7:25991654-25992753	HepG2	liver:	n/a	n/a
20	BHLHE40	chr7:25989373-25991373	HepG2	liver:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
21	BHLHE40	chr7:25990719-25991002	HepG2	liver:	n/a	chr7:25990931-25990944 chr7:25990933-25990942 chr7:25990933-25990942 chr7:25990932-25990941
22	BRCA1	chr7:25990181-25990378	HepG2	liver:	n/a	n/a
23	BRCA1	chr7:25991177-25991192	GM12878	blood:	n/a	n/a
24	BRCA1	chr7:25991251-25991343	HepG2	liver:	n/a	n/a
25	BRCA1	chr7:25989762-25990253	H1-hESC	embryonic stem cell:	n/a	chr7:25989786-25989793
26	CBX3	chr7:25990700-25990965	K562	blood:	n/a	n/a
27	CCNT2	chr7:25989353-25990179	K562	blood:	n/a	chr7:25989660-25989669 chr7:25990008-25990017 chr7:25989445-25989454
28	CCNT2	chr7:25990519-25991302	K562	blood:	n/a	chr7:25990615-25990624
29	CEBPB	chr7:25991134-25991334	HepG2	liver:	n/a	n/a
30	CEBPB	chr7:25992274-25992809	HepG2	liver:	n/a	n/a
31	CEBPB	chr7:25992177-25992717	HepG2	liver:	n/a	n/a
32	CEBPB	chr7:25990786-25991346	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPD	chr7:25990637-25991360	HepG2	liver:	n/a	n/a
34	CEBPD	chr7:25992173-25992587	HepG2	liver:	n/a	n/a
35	CHD1	chr7:25989386-25989956	GM12878	blood:	n/a	chr7:25989460-25989467
36	CHD1	chr7:25989657-25990491	H1-hESC	embryonic stem cell:	n/a	chr7:25990411-25990421
37	CHD1	chr7:25990669-25990889	GM12878	blood:	n/a	chr7:25990731-25990741
38	CHD1	chr7:25990175-25990445	GM12878	blood:	n/a	chr7:25990411-25990421
39	CHD1	chr7:25991191-25991369	GM12878	blood:	n/a	n/a
40	CHD2	chr7:25989872-25990026	K562	blood:	n/a	n/a
41	CHD2	chr7:25989059-25989607	K562	blood:	n/a	chr7:25989460-25989467
42	CHD2	chr7:25992207-25992596	HepG2	liver:	n/a	n/a
43	CHD2	chr7:25990640-25991506	H1-hESC	embryonic stem cell:	n/a	chr7:25990731-25990741 chr7:25990920-25990930
44	CHD2	chr7:25989308-25990034	GM12878	blood:	n/a	chr7:25989460-25989467
45	CHD2	chr7:25989382-25989619	HepG2	liver:	n/a	chr7:25989460-25989467
46	CHD2	chr7:25990163-25991357	HepG2	liver:	n/a	chr7:25990731-25990741 chr7:25990920-25990930 chr7:25990411-25990421
47	CHD2	chr7:25989325-25990426	H1-hESC	embryonic stem cell:	n/a	chr7:25990411-25990421 chr7:25989460-25989467
48	CHD2	chr7:25990274-25991363	GM12878	blood:	n/a	chr7:25990731-25990741 chr7:25990920-25990930 chr7:25990411-25990421
49	CHD2	chr7:25990320-25991277	K562	blood:	n/a	chr7:25990731-25990741 chr7:25990920-25990930 chr7:25990411-25990421
50	CREB1	chr7:25990632-25991015	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:25991025-25991075	ECC-1	luminal epithelium:	n/a
2	chr7:25990806-25990856	IMR90	lung:	fetal
3	chr7:25989618-25989668	K562	blood:	n/a
4	chr7:25991027-25991077	MCF-7	breast:	n/a
5	chr7:25989524-25989574	NH-A	brain:	n/a
6	chr7:25990806-25990856	GM06990	blood:	n/a
7	chr7:25990679-25990729	GM12878	blood:	n/a
8	chr7:25989618-25989668	ovcar-3	ovarian:	n/a
9	chr7:25991027-25991077	HCT-116	colon:	n/a
10	chr7:25991722-25991772	HL-60	blood:	n/a
11	chr7:25990679-25990729	MCF-7	breast:	n/a
12	chr7:25989618-25989668	HCF	heart:	n/a
13	chr7:25991654-25991704	HCPEpiC	choroid plexus:	n/a
14	chr7:25991722-25991772	U87	brain:	n/a
15	chr7:25990679-25990729	AG09319	gingival:	n/a
16	chr7:25991025-25991075	HL-60	blood:	n/a
17	chr7:25990013-25990063	GM12878	blood:	n/a
18	chr7:25991025-25991075	NB4	blood:	n/a
19	chr7:25991025-25991075	HMEC	breast:	n/a
20	chr7:25989763-25989813	HNPCEpiC	eye:	n/a
21	chr7:25991025-25991075	BJ	skin:	n/a
22	chr7:25990026-25990076	HL-60	blood:	n/a
23	chr7:25989618-25989668	SK-N-SH_RA	brain:	n/a
24	chr7:25990806-25990856	HPAEpiC	pulmonary alveolar:	n/a
25	chr7:25990026-25990076	PrEC	prostate:	n/a
26	chr7:25991027-25991077	HUVEC	blood vessel:	n/a
27	chr7:25991654-25991704	PANC-1	pancreas:	n/a
28	chr7:25989618-25989668	Caco-2	colon:	n/a
29	chr7:25991107-25991157	HAEpiC	amniotic membrane:	n/a
30	chr7:25989524-25989574	HAEpiC	amniotic membrane:	n/a
31	chr7:25990806-25990856	AG10803	skin:	n/a
32	chr7:25991654-25991704	GM12878	blood:	n/a
33	chr7:25989618-25989668	GM12892	blood:	n/a
34	chr7:25990806-25990856	HMEC	breast:	n/a
35	chr7:25990013-25990063	PANC-1	pancreas:	n/a
36	chr7:25989618-25989668	HAEpiC	amniotic membrane:	n/a
37	chr7:25989524-25989574	Caco-2	colon:	n/a
38	chr7:25990806-25990856	Jurkat	blood:	n/a
39	chr7:25989735-25989785	ovcar-3	ovarian:	n/a
40	chr7:25991654-25991704	IMR90	lung:	fetal
41	chr7:25990679-25990729	HL-60	blood:	n/a
42	chr7:25991107-25991157	IMR90	lung:	fetal
43	chr7:25990026-25990076	IMR90	lung:	fetal
44	chr7:25991107-25991157	AG09319	gingival:	n/a
45	chr7:25989524-25989574	HCT-116	colon:	n/a
46	chr7:25991107-25991157	GM06990	blood:	n/a
47	chr7:25991107-25991157	H1-hESC	embryonic stem cell:	embryo
48	chr7:25990026-25990076	HCM	heart:	n/a
49	chr7:25990679-25990729	Hepatocyte	liver:	n/a
50	chr7:25989618-25989668	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:25989265..25991851-chr7:26238825..26240746,4	MCF-7	breast:
2	chr7:25901871..25903514-chr7:25989852..25991943,2	K562	blood:
3	chr7:25965773..25968588-chr7:25989969..25992378,2	MCF-7	breast:
4	chr7:25989811..25992726-chr7:26096097..26097704,2	MCF-7	breast:
5	chr7:25990709..25992651-chr7:26072086..26075062,2	MCF-7	breast:
6	chr7:25952760..25954350-chr7:25989892..25992459,2	K562	blood:
7	chr11:128392124..128392882-chr7:25991162..25992153,2	HCT-116	colon:
8	chr7:25990038..25992521-chr7:26240210..26242861,2	MCF-7	breast:
9	chr7:25990509..25992566-chr7:25994471..25996898,2	K562	blood:
10	chr7:25990246..25992488-chr7:26100564..26102799,3	MCF-7	breast:
11	chr7:25901385..25904121-chr7:25989908..25991928,2	MCF-7	breast:
12	chr1:45204875..45205516-chr7:25991087..25991649,2	HCT-116	colon:
13	chr7:25990207..25991830-chr7:26094178..26097069,2	MCF-7	breast:
14	chr2:122288195..122288920-chr7:25991049..25991698,2	NB4	blood:
15	chr7:25990219..25991822-chr7:25999068..26002038,2	K562	blood:
16	chr7:25990295..25993400-chr7:26020103..26023231,3	MCF-7	breast:
17	chr7:25990769..25992627-chr7:25993165..25995306,2	MCF-7	breast:
18	chr7:25932084..25934727-chr7:25991166..25992811,2	MCF-7	breast:
19	chr7:25990548..25994647-chr7:26001939..26005377,4	MCF-7	breast:
20	chr7:25932775..25935474-chr7:25989853..25992220,2	K562	blood:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-148a-3p	chr7:25989542-25989563	MIMAT0000243
hsa-miR-148a-5p	chr7:25989580-25989601	MIMAT0004549

Variant related genes	Relation type
MIR148A	TF binding region
ENSG00000270933	TF binding region
MIR148A	CpG island
ENSG00000270933	CpG island
ENSG00000142945	chromatin interactions
ENSG00000074054	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000134954	chromatin interactions
ENSG00000264229	chromatin interactions
SLC2A3	Mature miRNA region
KIAA1549	Mature miRNA region
SPRY2	Mature miRNA region
CBX3	Mature miRNA region
SESTD1	Mature miRNA region
RAB1B	Mature miRNA region
MYCBP2	Mature miRNA region
AMELX	Mature miRNA region
LBR	Mature miRNA region
DNMT3B	Mature miRNA region
GALK2	Mature miRNA region
TGIF2	Mature miRNA region
POFUT1	Mature miRNA region
MTMR9	Mature miRNA region
RASSF8	Mature miRNA region
SECISBP2L	Mature miRNA region
SNAPIN	Mature miRNA region
GOLIM4	Mature miRNA region
DYNLL2	Mature miRNA region
APC	Mature miRNA region
IRS1	Mature miRNA region
CCKBR	Mature miRNA region
LYSMD1	Mature miRNA region
HOXC8	Mature miRNA region
TMEM9B	Mature miRNA region
HSP90B1	Mature miRNA region
PTPN4	Mature miRNA region
CDC25B	Mature miRNA region
UQCRQ	Mature miRNA region
RPS17L	Mature miRNA region
TMEM14A	Mature miRNA region
ZNF490	Mature miRNA region
HCCS	Mature miRNA region
ACTR1A	Mature miRNA region
APPBP2	Mature miRNA region
PRNP	Mature miRNA region
BCL2	Mature miRNA region
GNB5	Mature miRNA region
KANSL1	Mature miRNA region
CCNI	Mature miRNA region
GAS1	Mature miRNA region
RAB12	Mature miRNA region
WDTC1	Mature miRNA region
OR2C3	Mature miRNA region
DNAJB4	Mature miRNA region
USP38	Mature miRNA region
DSTYK	Mature miRNA region
AURKB	Mature miRNA region
MSL3	Mature miRNA region
NR1I2	Mature miRNA region
VPS41	Mature miRNA region
PBXIP1	Mature miRNA region
CDK19	Mature miRNA region
HLA-G	Mature miRNA region
RAB10	Mature miRNA region
WAPAL	Mature miRNA region
TRIM59	Mature miRNA region
MPP5	Mature miRNA region
PAN3	Mature miRNA region
BTBD3	Mature miRNA region
ADARB1	Mature miRNA region
NONO	Mature miRNA region
GPATCH8	Mature miRNA region
PTPN23	Mature miRNA region
PSMD9	Mature miRNA region
CYCS	Mature miRNA region
DNMT1	Mature miRNA region
RPS6KA5	Mature miRNA region
MRPL45	Mature miRNA region
ARRDC3	Mature miRNA region
ACVR1	Mature miRNA region
TNRC6A	Mature miRNA region
ANP32A	Mature miRNA region
DENR	Mature miRNA region
PAPD4	Mature miRNA region
HMGB1	Mature miRNA region
RAB34	Mature miRNA region
DYRK1A	Mature miRNA region
MAP3K4	Mature miRNA region
SLC25A3	Mature miRNA region
HSPA4	Mature miRNA region
ZNF92	Mature miRNA region
TMED7	Mature miRNA region

Extended variants
information (count: 89 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199981120	chr7:25989529-25989530	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370090919	chr7:25989553-25989554	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region miRNA	83 gene(s)	Overlapped CNVs	n/a
3	rs185641358	chr7:25989608-25989609	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs548776348	chr7:25989614-25989615	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs568790747	chr7:25989663-25989664	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs537310286	chr7:25989665-25989666	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs557331220	chr7:25989666-25989667	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs565640979	chr7:25989672-25989673	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs539819586	chr7:25989683-25989684	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs111299611	chr7:25989733-25989734	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113574137	chr7:25989799-25989800	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs112173527	chr7:25989808-25989809	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs188397923	chr7:25989831-25989832	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs541653604	chr7:25989883-25989884	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs62446277	chr7:25989960-25989961	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575511780	chr7:25989975-25989976	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs140521691	chr7:25990047-25990048	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs564402103	chr7:25990059-25990060	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs532829742	chr7:25990081-25990082	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs144380129	chr7:25990129-25990130	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs536717557	chr7:25990137-25990138	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs560316924	chr7:25990166-25990167	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs528966378	chr7:25990207-25990208	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs548813669	chr7:25990253-25990254	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs568625911	chr7:25990260-25990261	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs181566089	chr7:25990273-25990274	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs114108791	chr7:25990294-25990295	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs10249204	chr7:25990356-25990357	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529659030	chr7:25990364-25990365	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs558132067	chr7:25990383-25990384	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs185765290	chr7:25990435-25990436	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs371340106	chr7:25990440-25990441	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs535523050	chr7:25990444-25990445	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs555153182	chr7:25990477-25990478	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs4000712	chr7:25990489-25990490	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs2893233	chr7:25990553-25990554	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs4000713	chr7:25990597-25990598	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544386405	chr7:25990669-25990670	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs557801533	chr7:25990740-25990741	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs577846698	chr7:25990755-25990756	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs540253744	chr7:25990815-25990816	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs367722469	chr7:25990928-25990929	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs192361639	chr7:25991022-25991023	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs542694416	chr7:25991026-25991027	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs562565011	chr7:25991030-25991031	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs549783578	chr7:25991036-25991037	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs531055206	chr7:25991046-25991047	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs548253901	chr7:25991109-25991110	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs571087639	chr7:25991163-25991164	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs533651408	chr7:25991166-25991167	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25987200-25993200	Active TSS	Pancreas	Pancrea
2	chr7:25987800-25992800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:25988000-25989600	Weak transcription	Right Atrium	heart
4	chr7:25988200-25990000	Flanking Active TSS	Liver	Liver
5	chr7:25988200-25990200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr7:25988400-25990200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:25988600-25989600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:25988600-25989600	Enhancers	Lung	lung
9	chr7:25988800-25989600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:25988800-25989600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:25988800-25989600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:25988800-25989600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:25988800-25989800	Flanking Active TSS	Thymus	Thymus
14	chr7:25989000-25989600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:25989000-25989600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr7:25989000-25989600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:25989000-25989600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr7:25989000-25989600	Enhancers	Small Intestine	intestine
19	chr7:25989000-25990000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr7:25989000-25990000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr7:25989000-25990000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:25989000-25990000	Flanking Active TSS	K562	blood
23	chr7:25989000-25990200	Flanking Active TSS	Fetal Thymus	thymus
24	chr7:25989000-25990200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr7:25989000-25991400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:25989200-25989600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:25989200-25989600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr7:25989200-25989600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:25989200-25989600	Flanking Active TSS	Fetal Lung	lung
30	chr7:25989200-25989600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr7:25989200-25989600	Flanking Active TSS	HepG2	liver
32	chr7:25989200-25989800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr7:25989200-25989800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:25989200-25990000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:25989200-25990000	Flanking Active TSS	NHEK	skin
36	chr7:25989200-25990200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:25989200-25990400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr7:25989200-25990400	Flanking Active TSS	Colonic Mucosa	Colon
39	chr7:25989200-25991400	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr7:25989200-25991600	Active TSS	Rectal Smooth Muscle	rectum
41	chr7:25989200-25992600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr7:25989400-25989600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr7:25989400-25989600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:25989400-25989600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:25989400-25989600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:25989400-25989600	Active TSS	Primary T cells from cord blood	blood
47	chr7:25989400-25989600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:25989400-25989600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:25989400-25989600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:25989400-25989600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links